title: Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis.
abstract: The mouse X-linked mutants lined and stripey are associated with lethality of affected males in utero and a striping of the coat in carrier females. We demonstrate that the underlying mutations are nested deletions which lie in the Phex-Amelx chromosomal segment conserved between man and mouse. The lined deletion contains less than approximately 0.7 cM of genetic material and includes the growth factor-regulated protein kinase gene, Rsk2. Stripey carries a larger deletion which removes approximately 2.0 cM of genetic material, including Rsk2 and the pyruvate dehydrogenase E1alpha subunit gene, Pdha1 . Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders.
authors.affiliation: MRC Mammalian Genetics Unit, Harwell, Oxon OX11 0RD, UK.
authors.forename: H J
authors.initials: HJ
authors.lastname: Blair
authors.forename: E
authors.initials: E
authors.lastname: Gormally
authors.forename: I C
authors.initials: IC
authors.lastname: Uwechue
authors.forename: Y
authors.initials: Y
authors.lastname: Boyd
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000140:Acidosis, Lactic / Q000235:genetics*; D000818:Animals; D000831:Animals, Newborn; D001835:Body Weight; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008817:Mice, Mutant Strains; D009115:Muridae; D010641:Phenotype; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics; D019893:Ribosomal Protein S6 Kinases / Q000172:deficiency / Q000235:genetics*; D014960:X Chromosome
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D019893:Ribosomal Protein S6 Kinases